Friedreich ataxia

Friedreich ataxia ndi matenda osowa omwe amapezeka kudzera m'mabanja (obadwa nawo). Zimakhudza minofu ndi mtima.

Friedreich ataxia amayamba chifukwa cha vuto mu jini yotchedwa frataxin (FXN). Kusintha kwa jini imeneyi kumapangitsa kuti thupi lizipanga gawo lochulukirapo la DNA lotchedwa trinucleotide repeat (GAA). Nthawi zambiri, thupi limakhala ndimakope pafupifupi 8 mpaka 30 a GAA. Anthu omwe ali ndi Friedreich ataxia ali ndi makope pafupifupi 1,000. Matenda ambiri a GAA omwe munthu amakhala nawo, m'mbuyomu m'moyo matenda amayamba ndikuwonjezereka mwachangu.

Friedreich ataxia ndi matenda amisala yodziyimira payokha. Izi zikutanthauza kuti muyenera kupeza mtundu wa cholakwika kuchokera kwa amayi ndi abambo anu.

Zizindikiro zimayambitsidwa chifukwa chakutha kwa malo okhala muubongo ndi msana womwe umawongolera kulumikizana, kuyenda kwa minofu, ndi ntchito zina. Zizindikiro nthawi zambiri zimayamba musanathe msinkhu. Zizindikiro zimaphatikizapo:

• Kuyankhula kosazolowereka
• Zosintha m'masomphenya, makamaka mawonekedwe amitundu
• Kuchepetsa kuthekera kwakumverera kugwedezeka kwamiyendo yakumunsi
• Mavuto amiyendo, monga chala cham'miyala ndi milomo yayitali
• Kutaya kwakumva, izi zimachitika pafupifupi 10% ya anthu
• Kuyenda kwamaso kwa Jerky
• Kutayika kwa mgwirizano ndi kulingalira bwino, komwe kumabweretsa kugwa pafupipafupi
• Minofu kufooka
• Palibe malingaliro m'miyendo
• Kusakhazikika kosasunthika komanso mayendedwe osagwirizana (ataxia), zomwe zimaipiraipira pakapita nthawi

Matenda amisempha amabweretsa kusintha kwa msana. Izi zitha kubweretsa scoliosis kapena kyphoscoliosis.

Matenda amtima nthawi zambiri amayamba ndipo amatha kubweretsa kulephera kwa mtima. Kulephera kwa mtima kapena ma dysrhythmias omwe samayankha chithandizo atha kubweretsa imfa. Matenda ashuga amatha kuyamba kumapeto kwa matendawa.

Mayesero otsatirawa akhoza kuchitika:

• ECG
• Maphunziro a Electrophysiological
• EMG (chisamaliro chamagetsi)
• Kuyesedwa kwachibadwa
• Kuyesa kwamitsempha kwamitsempha
• Kutulutsa minofu
• X-ray, CT scan, kapena MRI yamutu
• X-ray ya chifuwa
• X-ray ya msana

Mayeso a shuga (magazi) amatha kuwonetsa matenda ashuga kapena shuga. Kuyesedwa kwa diso kumatha kuwonetsa kuwonongeka kwa mitsempha ya optic, yomwe nthawi zambiri imachitika popanda zizindikilo.

Chithandizo cha Friedreich ataxia chimaphatikizapo:

• Uphungu
• Mankhwala othandizira
• Thandizo lakuthupi
• Zothandizira kuyenda kapena njinga za olumala

Zipangizo zamafupa (zolimba) zitha kukhala zofunikira pamavuto a scoliosis ndi phazi. Kuchiza matenda amtima ndi matenda a shuga kumathandiza anthu kukhala ndi moyo wautali ndikukhala ndi moyo wabwino.

Friedreich ataxia imakulirakulira pang'onopang'ono ndipo imayambitsa mavuto pakuchita zochitika za tsiku ndi tsiku. Anthu ambiri amafunika kugwiritsa ntchito njinga ya olumala mkati mwa zaka 15 matendawa atayamba. Matendawa amatha kubweretsa kufa msanga.

Zovuta zingaphatikizepo:

• Matenda a shuga
• Kulephera kwa mtima kapena matenda amtima
• Kutaya kutha kuyenda

Itanani okhudzana ndi zaumoyo wanu ngati zizindikiro za Friedreich ataxia zimachitika, makamaka ngati pali mbiri yabanja yokhudzana ndi vutoli.

Anthu omwe ali ndi mbiri ya banja la Friedreich ataxia omwe akufuna kukhala ndi ana angafune kulingalira za kuwunika kwa majini kuti adziwe chiwopsezo chawo.

Atxia wa Friedreich; Kutha kwa Spinocerebellar

• Central dongosolo lamanjenje ndi zotumphukira zamanjenje

Mink JW. Matenda oyenda. Mu: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, olemba. Nelson Textbook of Pediatrics. Wolemba 20th. Philadelphia, PA: Elsevier; 2016: chap 597.

Warner WC, Sawyer JR. Scoliosis ndi kyphosis. Mu: Azar FM, Beaty JH, Canale ST, eds. Opaleshoni ya Campbell. Wolemba 13. Philadelphia, PA: Elsevier; 2017: mutu 44.